Canonical Allele Identifier: CA10646731

Gene: USH1G

Linked Data

• ClinVar Variation Id: 325053
• ClinVar RCV Id: RCV000347970
• dbSNP Id: rs886053389
• gnomAD v4: 17-74920083-G-A
• MyVariant Identifiers: chr17:g.72916178G>A (hg19) ; chr17:g.74920083G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74920083G>A , CM000679.2:g.74920083G>A	GRCh38
NC_000017.10:g.72916178G>A , CM000679.1:g.72916178G>A	GRCh37
NC_000017.9:g.70427773G>A	NCBI36
NG_007882.1:g.8174C>T
NG_033062.1:g.809G>A
NG_007882.2:g.8181C>T
NG_033062.2:g.809G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.753C>T MANE Select	ENSP00000480279.1:p.Ser251=
ENST00000579243.1:c.*352C>T	ENSP00000462568.1:n.*352C>T
ENST00000614341.4:c.753C>T	ENSP00000480279.1:p.Ser251=
NM_001282489.2:c.444C>T	NP_001269418.1:p.Ser148=
NM_173477.4:c.753C>T	NP_775748.2:p.Ser251=
XM_011524296.1:c.444C>T	XP_011522598.1:p.Ser148=
XM_011524296.2:c.444C>T	XP_011522598.1:p.Ser148=
NM_173477.5:c.753C>T MANE Select	NP_775748.2:p.Ser251=
NM_001282489.3:c.444C>T	NP_001269418.1:p.Ser148=